Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,863 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis129
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease39
- Hemophilia A39
- Cystic Fibrosis (CF)37
- Cardiac Amyloidosis35
- Huntington Disease32
- Lynch Syndrome32
- Heart Failure31
- Retinitis Pigmentosa31
- Bronchopulmonary Dysplasia30
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)27
Leading sponsors
- Assistance Publique - Hôpitaux de Paris62
- Boston Children's Hospital42
- National Institute of Allergy and Infectious Diseases (NIAID)38
- Mayo Clinic37
- Children's Hospital Medical Center, Cincinnati33
- Hospices Civils de Lyon32
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Riphah International University26
- Massachusetts General Hospital23
- National Human Genome Research Institute (NHGRI)23
Where studies are running
- California339
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona77
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,863 total
- NCT06735755RecruitingPhase 1/Phase 2
Study of BEAM-301 for glycogen storage disease type Ia
This study tests an experimental medicine called BEAM-301 for people with a specific form of glycogen storage disease type Ia (GSDIa). The goal is to see if it can help reduce dangerous low blood sugar episodes.
Orange, CaliforniaAges 18 years+ - NCT06657846Recruiting
Quality of life and costs for people with VEXAS
This study looks at how VEXAS syndrome affects your daily life and finances. It aims to understand the challenges you face so doctors can better support you.
AnconaAges 18–99 - NCT07150026RecruitingPhase 1
Testing vorinostat for Pitt Hopkins syndrome
This trial tests whether vorinostat, a medication that may affect gene activity, is safe and helpful for children and young adults with Pitt Hopkins syndrome. Participants take the drug by mouth or feeding tube.
MedellínAges 3–21 - NCT07134998RecruitingPhase 1
Study of HRS-6093 for advanced solid tumors with KRAS G12D mutation
This trial tests a new drug, HRS-6093, for people with advanced solid tumors that have a specific genetic change called KRAS G12D. The goal is to see if the drug is safe and effective for those who have not responded to or cannot tolerate other treatments.
Shanghai, Shanghai MunicipalityAges 18–75 - NCT07591298RecruitingPhase 2
SYH2070 injection for homozygous familial high cholesterol
This study tests a new injectable medication (SYH2070) designed to lower cholesterol in people with homozygous familial hypercholesterolemia—a genetic condition that causes extremely high cholesterol levels despite treatment. The goal is to see if this drug safely reduces cholesterol better than current options.
Changsha, HunanAges 18 years+ - NCT06424392Recruiting
How lung surgery for birth defects affects kids long-term
This study follows children born with a congenital lung malformation (a lung problem present at birth) to see how surgery to remove it affects their breathing and emotional well-being over time. Your child might be eligible if they are already part of a large French research program called MALFPULM.
ParisAges 6–9 - NCT05771688Recruiting
Balloon procedure for severe left lung birth defect
This trial studies a fetal procedure where doctors place a small balloon to help a severe left-sided lung birth defect (CDH) develop better. It aims to improve baby outcomes by temporarily blocking the airway in the womb, starting in a specific week range of pregnancy.
Minneapolis, MinnesotaAges 18 years+ - NCT06975618RecruitingPhase 1/Phase 2
Study of CYH33 for PIK3CA-related overgrowth and vascular malformations
This trial tests a new drug called CYH33 for people with conditions caused by a specific gene mutation (PIK3CA) that leads to abnormal tissue growth or blood vessel problems. It aims to see if the drug is safe and can help shrink or control these growths.
Beijing, Beijing MunicipalityAges Any age - NCT07690527Enrolling by invitationPhase 1
Long-term follow-up for RB001 gene therapy in children with Phelan-McDermid syndrome
This study follows children who completed the RB001 gene therapy trial for Phelan-McDermid syndrome (caused by changes in the SHANK3 gene) to monitor their health and progress over a longer period of time.
Beijing, ChinaAges Any age - NCT07690111Recruiting
Study for people with TRPM3 gene changes
This is a global registry study for people who have a change (variant) in the TRPM3 gene. Researchers hope to learn more about the condition and how it affects patients.
Berlin, State of BerlinAges Any age - NCT07688538Recruiting
Mapping vision system development in embryos
This trial studies embryos to understand how the visual system develops normally and abnormally. It compares tissues from embryos with developmental problems to healthy ones, aiming to create a detailed map of early vision system growth.
Guangzhou, GuangdongAges Any age - NCT06701084Recruiting
Genetic Causes of Infant Epilepsy at Boston Children's
This study looks at the genetic causes of epilepsy that starts in babies under 1 year old. It aims to learn how a genetic diagnosis might help guide care.
Boston, MassachusettsAges Any age - NCT07676916Recruiting
Single vs double dartos flap for hypospadias repair
This trial compares two surgical techniques to repair distal hypospadias in boys. It aims to find which method works better for fixing the opening of the urethra near the tip of the penis.
Tanta, El-GharbiaAges 6 months–18 years - NCT07666204Recruiting
Improving prosthetic control after arm loss
This trial tests a new training approach to help people who have lost or were born without an arm below the elbow or higher. The training uses sensory and movement exercises to improve how you control a prosthetic device.
NancyAges 18 years+ - NCT07224581RecruitingPhase 3
Study of a new drug for GRIN-related developmental disorder
This trial tests a new drug for children with GRIN-related neurodevelopmental disorder caused by certain gene changes. The drug aims to improve seizures and other symptoms.
Los Angeles, CaliforniaAges 1 month–18 years - NCT06660550Recruiting
Needlescopic vs traditional laparoscopic hernia repair in children
This trial compares a newer, smaller-scope surgery (needlescopic) with the standard laparoscopic method for fixing inguinal hernias in kids. It aims to see if the needlescopic approach is safer or has better recovery.
SohagAges Up to 18 years - NCT06648044Recruiting
Finding new treatments for kidney ciliopathies
This study aims to find new treatment targets for nephronophthisis and related kidney ciliopathies. Researchers will collect blood and urine samples from people with these conditions, their healthy relatives, and other volunteers to better understand the disease.
La DefenseAges Any age - NCT07124377Recruiting
Study of hereditary ATTR amyloidosis symptoms
This study looks at how a specific genetic change (Val50Met) affects people with hereditary ATTR amyloidosis. It may help doctors better understand the condition and its symptoms.
Charata, Chaco ProvinceAges 20 years+ - NCT07477925Recruiting
Studying immune markers for CMV in pregnancy
This study looks at how the immune system responds to a first-time cytomegalovirus (CMV) infection during pregnancy. The goal is to find better ways to predict if the virus will pass to the baby.
Pavia, LombardyAges 18 years+ - NCT06408402Recruiting
Environment and tumor risk in SDHx carriers
This study looks at whether things in the environment (like chemicals or lifestyle) affect the risk of developing certain tumors in people who have a change in their SDHx gene. It compares people with the gene change who have had a related tumor to those who haven't.
AngersAges 18 years+ - NCT07456904Recruiting
Transition to adult care for cancer risk patients
This study looks at how young adults with a genetic risk for cancer (cancer predisposition syndrome) transition from St. Jude children's care to adult healthcare. It aims to understand their health outcomes and help improve future care.
Memphis, TennesseeAges 18 years+ - NCT06454955RecruitingEarly Phase 1
PET scan imaging study for solid tumors using a new probe
This trial tests a new imaging agent that targets a protein called B7-H3 found on many solid tumors. It uses PET/CT to help doctors see and stage tumors more clearly.
Beijing, Beijing MunicipalityAges 18–75 - NCT07024524Recruiting
Hearing evaluation and rehab system for congenital hearing loss
This study is developing a system to evaluate and improve hearing for people with congenital hearing loss. It compares participants who have hearing loss (and have used hearing aids, cochlear implants, or gene therapy) with healthy controls, to better understand and treat hearing challenges.
ShanghaiAges 1–35 - NCT07614126Recruiting
L-dopa Treatment for Children With CTNNB1 Gene Disorder
This study tests whether L-dopa medication can help children with a rare genetic disorder (caused by changes in the CTNNB1 gene) that causes involuntary muscle movements called dystonia. Researchers want to see if this medicine can reduce these movements and improve daily function.
Montpellier, HéraultAges 1–15
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,863 recruiting medical genetics studies from the U.S. registry right now, out of 5,730 we cover in this area in total.
- What does “Genetic & congenital” cover here?
- Inherited and congenital conditions present from birth or written into the genes. We group each study into genetic & congenital based on the conditions it studies, so you can scan the whole therapeutic area at once and drill into a specific condition.
- How do I find a genetic & congenital trial near me?
- Use the search to filter genetic & congenital studies by location and eligibility. Every Clin2 trial page explains the criteria in plain English and offers a short, optional pre-screen for a fit read — the study team makes the final decision.
Other specialties
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov; specialty groupings are derived from each study’s conditions. Talk with your doctor about whether a specific trial is right for you.